Institute for Human Genetics (University Hospital Essen), UK_Essen
General information
Personnel
- Christel Depienne, Principal Investigator
Phone: +49 201 723 4591
Email: christel.depienne@uni-due.de - Ilaria Parenti, Principal Investigator
Phone: 0049 201 723 4539
Email: ilaria.parenti@uk-essen.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 95
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autistic behavior | 6 | Jul 3, 2020 |
| Bradykinesia | 1 | Jul 3, 2020 |
| Cerebellar ataxia | 3 | Jul 3, 2020 |
| Dyskinesia | 1 | Jul 3, 2020 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 18 | Aug 8, 2022 |
| Epilepsy, familial adult myoclonic, 3 | 1 | Jun 22, 2019 |
| Global developmental delay | 40 | Jan 22, 2021 |
| Intellectual disability | 15 | Jan 22, 2021 |
| Intellectual disability, X-linked 50 | 4 | Aug 8, 2022 |
| Intellectual disability, mild | 3 | Jul 3, 2020 |
| Intellectual disability, moderate | 2 | Jul 3, 2020 |
| Intellectual disability, severe | 1 | Jul 3, 2020 |
| Lamb-Shaffer syndrome | 25 | Aug 5, 2019 |
| Motor tics | 3 | Jul 3, 2020 |
| Seizure | 12 | Jan 22, 2021 |
| Tourette syndrome | 1 | Aug 5, 2019 |